HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64751419T>C , CM000673.2:g.64751419T>C | GRCh38 |
NC_000011.9:g.64518891T>C , CM000673.1:g.64518891T>C | GRCh37 |
NC_000011.8:g.64275467T>C | NCBI36 |
NG_013018.1:g.14297A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.1875A>G MANE Select | ENSP00000164139.3:p.Thr625= | |
ENST00000164139.3:c.1875A>G | ENSP00000164139.3:p.Thr625= | |
ENST00000377432.7:c.1611A>G | ENSP00000366650.3:p.Thr537= | |
ENST00000462303.1:n.199A>G | ||
NM_001164716.1:c.1611A>G | NP_001158188.1:p.Thr537= | |
NM_005609.2:c.1875A>G | NP_005600.1:p.Thr625= | |
NM_005609.3:c.1875A>G | NP_005600.1:p.Thr625= | |
NM_005609.4:c.1875A>G MANE Select | NP_005600.1:p.Thr625= |